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Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

sequencing Hefan Miao and Jiapeng Zhou contributed equally to this work. Electronic supplementary material The online version of this article ( contains

Liver resection versus radiofrequency ablation for hepatitis B virus-related small hepatocellular carcinoma

Liver resection versus radiofrequency ablation for hepatitis B virus-related small hepatocellular carcinoma Bin Liang,1,2 Siyang Yao,2 Jiapeng Zhou,3 Zongkui Li,1,2 Tianqi Liu2 1Department of

DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD

Background Dystrophinopathy is one of the most common human monogenic diseases which results in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Mutations in the dystrophin gene are responsible for both DMD and BMD. However, the clinical phenotypes and treatments are quite different in these two muscular dystrophies. Since early diagnosis and treatment...

Association of echocardiographic left ventricular structure and −344C/T aldosterone synthase gene variant: A meta-analysis

Background: Aldosterone synthase (CYP11B2) is one of the most studied candidate genes related to essential hypertension (EH) and left ventricular hypertrophy (LVH). Some studies have focused on the relationship between −344C/T polymorphism (rs1799998) in the CYP11B2 gene and LVH, but the results are controversial. This meta-analysis is purposed to reveal the relationship between...

Genome-Wide Association Study for Cytokines and Immunoglobulin G in Swine

Increased disease resistance through improved immune capacity would be beneficial for the welfare and productivity of farm animals. To identify genomic regions responsible for immune capacity traits in swine, a genome-wide association study was conducted. In total, 675 pigs were included. At 21 days of age, all piglets were vaccinated with modified live classical swine fever...

Restoration of klotho gene expression induces apoptosis and autophagy in gastric cancer cells: tumor suppressive role of klotho in gastric cancer

Background The loss of tumor suppressor gene expression is involved in the carcinogenesis of gastric cancer (GC). Klotho is a recently identified tumor suppressor gene that epigenetically inactivated in gastric cancer. However, the signaling pathways involved in the suppressive role of klotho have rarely been reported in gastric cancer. In this study, we investigated the...

The effect of calcium and vitamin D supplementation on obesity in postmenopausal women: secondary analysis for a large-scale, placebo controlled, double-blind, 4-year longitudinal clinical trial

Background It is undetermined whether calcium supplementation has an effect on obesity or body composition in postmenopausal women. The purpose of the study is to detect the effect of calcium supplementation on indices of obesity and body composition. Methods This is a secondary analysis of data from a population-based, double-blind, placebo-controlled, randomized trial designed...